|
ENST00000699814.2:c.*1403_*1570del
|
ENSP00000514615.2:n.*1403_*1570del
|
|
|
ENST00000699840.2:c.2004_2171del
|
ENSP00000514638.2:p.Ser668_Ala724delinsAr...
|
|
|
ENST00000699930.2:c.1899_2066del
|
ENSP00000514695.2:p.Ser633_Ala689delinsAr...
|
|
|
ENST00000406569.8:c.1678+4096_1678+4263del
|
ENSP00000514464.1:n.1678+4096_1678+4263de...
|
|
|
ENST00000644110.2:c.*1601_*1768del
|
ENSP00000496392.2:n.*1601_*1768del
|
|
|
ENST00000699752.1:c.1851_2018del
|
ENSP00000514561.1:p.Ser617_Ala673delinsAr...
|
|
|
ENST00000699753.1:c.*1428_*1595del
|
ENSP00000514562.1:n.*1428_*1595del
|
|
|
ENST00000699754.1:c.1809_1976del
|
ENSP00000514563.1:p.Ser603_Ala659delinsAr...
|
|
|
ENST00000699755.1:c.*1406_*1573del
|
ENSP00000514564.1:n.*1406_*1573del
|
|
|
ENST00000699756.1:c.*1594_*1761del
|
ENSP00000514565.1:n.*1594_*1761del
|
|
|
ENST00000699757.1:c.*1264_*1431del
|
ENSP00000514566.1:n.*1264_*1431del
|
|
|
ENST00000699758.1:c.*1264_*1431del
|
ENSP00000514567.1:n.*1264_*1431del
|
|
|
ENST00000699759.1:n.2861_3028del
|
|
|
|
ENST00000699760.1:c.1689_1856del
|
ENSP00000514568.1:p.Ser563_Ala619delinsAr...
|
|
|
ENST00000699761.1:c.1602_1769del
|
ENSP00000514569.1:p.Ser534_Ala590delinsAr...
|
|
|
ENST00000699762.1:c.1434_1601del
|
ENSP00000514570.1:p.Ser478_Ala534delinsAr...
|
|
|
ENST00000699763.1:c.*1097_*1264del
|
ENSP00000514571.1:n.*1097_*1264del
|
|
|
ENST00000699764.1:c.*325_*492del
|
ENSP00000514572.1:n.*325_*492del
|
|
|
ENST00000699765.1:c.*1103_*1270del
|
ENSP00000514573.1:n.*1103_*1270del
|
|
|
ENST00000699766.1:c.2007_2174del
|
ENSP00000514574.1:p.Ser669_Ala725delinsAr...
|
|
|
ENST00000699767.1:c.2007_2174del
|
ENSP00000514575.1:p.Ser669_Ala725delinsAr...
|
|
|
ENST00000699768.1:c.2007_2174del
|
ENSP00000514576.1:p.Lys670_Ala725del
|
|
|
ENST00000699811.1:c.1602_1769del
|
ENSP00000514614.1:p.Ser534_Ala590delinsAr...
|
|
|
ENST00000699813.1:n.2120_2287del
|
|
|
|
ENST00000699814.1:c.1630_1797del
|
|
|
|
ENST00000699815.1:c.*1538_*1705del
|
ENSP00000514616.1:n.*1538_*1705del
|
|
|
ENST00000699816.1:c.*897_*1064del
|
ENSP00000514617.1:n.*897_*1064del
|
|
|
ENST00000699817.1:c.*1601_*1768del
|
ENSP00000514618.1:n.*1601_*1768del
|
|
|
ENST00000699818.1:c.1602_1769del
|
ENSP00000514619.1:p.Ser534_Ala590delinsAr...
|
|
|
ENST00000699819.1:c.*1164_*1331del
|
ENSP00000514620.1:n.*1164_*1331del
|
|
|
ENST00000699820.1:c.1145_*112del
|
ENSP00000514621.1:n.[c.1145_*112del;Val38...
|
|
|
ENST00000699821.1:c.1602_1769del
|
ENSP00000514622.1:p.Ser534_Ala590delinsAr...
|
|
|
ENST00000699822.1:c.*1459_*1626del
|
ENSP00000514623.1:n.*1459_*1626del
|
|
|
ENST00000699823.1:c.1602_1769del
|
ENSP00000514624.1:p.Ser534_Ala590delinsAr...
|
|
|
ENST00000699824.1:c.*1510_*1677del
|
ENSP00000514625.1:n.*1510_*1677del
|
|
|
ENST00000699825.1:c.1446_1613del
|
ENSP00000514626.1:p.Ser482_Ala538delinsAr...
|
|
|
ENST00000699826.1:c.*1406_*1573del
|
ENSP00000514627.1:n.*1406_*1573del
|
|
|
ENST00000699827.1:c.1839_2006del
|
ENSP00000514628.1:p.Ser613_Ala669delinsAr...
|
|
|
ENST00000699828.1:c.*1097_*1264del
|
ENSP00000514629.1:n.*1097_*1264del
|
|
|
ENST00000699833.1:n.3779_3946del
|
|
|
|
ENST00000699837.1:c.1602_1769del
|
ENSP00000514635.1:p.Ser534_Ala590delinsAr...
|
|
|
ENST00000699838.1:c.*1907_*2074del
|
ENSP00000514636.1:n.*1907_*2074del
|
|
|
ENST00000699839.1:c.2193_2360del
|
ENSP00000514637.1:p.Ser731_Ala787delinsAr...
|
|
|
ENST00000699916.1:c.*1264_*1431del
|
ENSP00000514684.1:n.*1264_*1431del
|
|
|
ENST00000699917.1:c.*1456_*1623del
|
ENSP00000514685.1:n.*1456_*1623del
|
|
|
ENST00000699918.1:c.*1508_*1675del
|
ENSP00000514686.1:n.*1508_*1675del
|
|
|
ENST00000699919.1:c.*1594_*1761del
|
ENSP00000514687.1:n.*1594_*1761del
|
|
|
ENST00000699920.1:c.*1643_*1810del
|
ENSP00000514688.1:n.*1643_*1810del
|
|
|
ENST00000699928.1:c.989_*112del
|
ENSP00000514693.1:n.[c.989_*112del;Val330...
|
|
|
ENST00000699951.1:c.*1103_*1270del
|
ENSP00000514706.1:n.*1103_*1270del
|
|
|
ENST00000699952.1:c.804-9449_804-9282del
|
ENSP00000514707.1:n.804-9449_804-9282del
|
|
|
ENST00000265849.12:c.2007_2174del
MANE Select
|
ENSP00000265849.7:p.Ser669_Ala725delinsAr...
|
|
|
ENST00000642292.1:c.1602_1769del
|
ENSP00000495524.1:p.Ser534_Ala590delinsAr...
|
|
|
ENST00000642456.1:c.1602_1769del
|
ENSP00000493814.1:p.Ser534_Ala590delinsAr...
|
|
|
ENST00000643595.1:c.*1406_*1573del
|
ENSP00000494497.1:n.*1406_*1573del
|
|
|
ENST00000644110.1:c.1689_1856del
|
ENSP00000496392.1:p.Ser563_Ala619delinsAr...
|
|
|
ENST00000265849.11:c.2007_2174del
|
ENSP00000265849.7:p.Ser669_Ala725delinsAr...
|
|
|
ENST00000382321.5:c.804_971del
|
ENSP00000371758.4:p.Tyr268Ter
|
|
|
ENST00000406569.7:n.1678+4096_1678+4263del
|
|
|
|
ENST00000441476.6:c.1689_1856del
|
ENSP00000392843.2:p.Ser563_Ala619delinsAr...
|
|
|
NM_000535.5:c.2007_2174del , LRG_161t1:c.2007_2174del
|
NP_000526.1:p.Ser669_Ala725delinsArg
|
|
|
NR_003085.2:n.2089_2256del
|
|
|
|
XM_006715742.2:c.2001_2168del
|
XP_006715805.1:p.Ser667_Ala723delinsArg
|
|
|
XM_006715744.2:c.1074_1241del
|
XP_006715807.1:p.Ser358_Ala414delinsArg
|
|
|
XM_011515427.1:c.2052_2219del
|
XP_011513729.1:p.Ser684_Ala740delinsArg
|
|
|
XM_011515428.1:c.1896_2063del
|
XP_011513730.1:p.Ser632_Ala688delinsArg
|
|
|
XM_011515429.1:c.1689_1856del
|
XP_011513731.1:p.Ser563_Ala619delinsArg
|
|
|
XM_011515430.1:c.1689_1856del
|
XP_011513732.1:p.Ser563_Ala619delinsArg
|
|
|
NM_000535.6:c.2007_2174del
|
NP_000526.2:p.Ser669_Ala725delinsArg
|
|
|
NM_001322003.1:c.1602_1769del
|
NP_001308932.1:p.Ser534_Ala590delinsArg
|
|
|
NM_001322004.1:c.1602_1769del
|
NP_001308933.1:p.Ser534_Ala590delinsArg
|
|
|
NM_001322005.1:c.1602_1769del
|
NP_001308934.1:p.Ser534_Ala590delinsArg
|
|
|
NM_001322006.1:c.1851_2018del
|
NP_001308935.1:p.Ser617_Ala673delinsArg
|
|
|
NM_001322007.1:c.1689_1856del
|
NP_001308936.1:p.Ser563_Ala619delinsArg
|
|
|
NM_001322008.1:c.1689_1856del
|
NP_001308937.1:p.Ser563_Ala619delinsArg
|
|
|
NM_001322009.1:c.1602_1769del
|
NP_001308938.1:p.Ser534_Ala590delinsArg
|
|
|
NM_001322010.1:c.1446_1613del
|
NP_001308939.1:p.Ser482_Ala538delinsArg
|
|
|
NM_001322011.1:c.1074_1241del
|
NP_001308940.1:p.Ser358_Ala414delinsArg
|
|
|
NM_001322012.1:c.1074_1241del
|
NP_001308941.1:p.Ser358_Ala414delinsArg
|
|
|
NM_001322013.1:c.1434_1601del
|
NP_001308942.1:p.Ser478_Ala534delinsArg
|
|
|
NM_001322014.1:c.2007_2174del
|
NP_001308943.1:p.Ser669_Ala725delinsArg
|
|
|
NM_001322015.1:c.1698_1865del
|
NP_001308944.1:p.Ser566_Ala622delinsArg
|
|
|
NR_136154.1:n.2094_2261del
|
|
|
|
XM_006715744.4:c.1074_1241del
|
XP_006715807.1:p.Ser358_Ala414delinsArg
|
|
|
XM_017012342.2:c.1074_1241del
|
XP_016867831.1:p.Ser358_Ala414delinsArg
|
|
|
XM_024446800.1:c.1446_1613del
|
XP_024302568.1:p.Ser482_Ala538delinsArg
|
|
|
NM_000535.7:c.2007_2174del
MANE Select
|
NP_000526.2:p.Ser669_Ala725delinsArg
|
|
|
NM_001322003.2:c.1602_1769del
|
NP_001308932.1:p.Ser534_Ala590delinsArg
|
|
|
NM_001322004.2:c.1602_1769del
|
NP_001308933.1:p.Ser534_Ala590delinsArg
|
|
|
NM_001322005.2:c.1602_1769del
|
NP_001308934.1:p.Ser534_Ala590delinsArg
|
|
|
NM_001322006.2:c.1851_2018del
|
NP_001308935.1:p.Ser617_Ala673delinsArg
|
|
|
NM_001322008.2:c.1689_1856del
|
NP_001308937.1:p.Ser563_Ala619delinsArg
|
|
|
NM_001322009.2:c.1602_1769del
|
NP_001308938.1:p.Ser534_Ala590delinsArg
|
|
|
NM_001322010.2:c.1446_1613del
|
NP_001308939.1:p.Ser482_Ala538delinsArg
|
|
|
NM_001322011.2:c.1074_1241del
|
NP_001308940.1:p.Ser358_Ala414delinsArg
|
|
|
NM_001322012.2:c.1074_1241del
|
NP_001308941.1:p.Ser358_Ala414delinsArg
|
|
|
NM_001322013.2:c.1434_1601del
|
NP_001308942.1:p.Ser478_Ala534delinsArg
|
|
|
NM_001322014.2:c.2007_2174del
|
NP_001308943.1:p.Ser669_Ala725delinsArg
|
|
|
NM_001322015.2:c.1698_1865del
|
NP_001308944.1:p.Ser566_Ala622delinsArg
|
|
|
NM_001322007.2:c.1689_1856del
|
NP_001308936.1:p.Ser563_Ala619delinsArg
|
|
